Variant report

Variant	nsv1052594
Chromosome Location	chr13:38075892-38091317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557889675	chr13:38075903-38075904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577871864	chr13:38075912-38075913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9594218	chr13:38075928-38075929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576370764	chr13:38075972-38075973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376304450	chr13:38075992-38075993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143723794	chr13:38076007-38076008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577958071	chr13:38076097-38076098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145777912	chr13:38076191-38076192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542991387	chr13:38076192-38076193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371041656	chr13:38076289-38076290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72621293	chr13:38076308-38076309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6563552	chr13:38076313-38076314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551417921	chr13:38076319-38076320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565050955	chr13:38076358-38076359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530976548	chr13:38076375-38076376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138357590	chr13:38076387-38076388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544982093	chr13:38077441-38077442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558563015	chr13:38077452-38077453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564378249	chr13:38077486-38077487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35201092	chr13:38077535-38077536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575326551	chr13:38077614-38077615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185002889	chr13:38077636-38077637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561438570	chr13:38077651-38077652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530198253	chr13:38077676-38077677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540841573	chr13:38077796-38077797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545584363	chr13:38079759-38079760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542003841	chr13:38079789-38079790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566282797	chr13:38079857-38079858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531405953	chr13:38079891-38079892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7323037	chr13:38079910-38079911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143076672	chr13:38079974-38079975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180869183	chr13:38083807-38083808	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540885910	chr13:38083866-38083867	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560780524	chr13:38083908-38083909	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1923715	chr13:38083919-38083920	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552939355	chr13:38083925-38083926	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142192214	chr13:38083967-38083968	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9532071	chr13:38083978-38083979	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564813250	chr13:38084007-38084008	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs59412218	chr13:38084009-38084010	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs55746127	chr13:38084025-38084026	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191069937	chr13:38084032-38084033	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs59992642	chr13:38084034-38084035	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571003093	chr13:38084064-38084065	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183161627	chr13:38084085-38084086	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566451635	chr13:38084124-38084125	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115888578	chr13:38084155-38084156	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375354017	chr13:38084191-38084192	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs558564430	chr13:38084208-38084209	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368132766	chr13:38084229-38084230	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38074200-38076200	Weak transcription	Osteobl	bone
2	chr13:38075000-38076400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:38076200-38076400	Enhancers	Osteobl	bone
4	chr13:38077400-38077800	Enhancers	Fetal Heart	heart
5	chr13:38079600-38080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:38083800-38084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:38083800-38084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:38083800-38084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:38083800-38084400	Enhancers	Osteobl	bone
10	chr13:38083800-38085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:38083800-38085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:38084000-38084200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:38084000-38084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:38084000-38084200	Flanking Active TSS	NHEK	skin
15	chr13:38084000-38084600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:38084200-38084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:38084200-38084400	Active TSS	NHEK	skin
18	chr13:38084200-38084600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:38084200-38084600	Enhancers	HMEC	breast
20	chr13:38084400-38084600	Flanking Active TSS	NHEK	skin
21	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:38084600-38085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:38084600-38085600	Enhancers	NHEK	skin
24	chr13:38085200-38085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:38089400-38090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:38089600-38090000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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